Incidental Mutation 'R7496:Itgb1'
ID |
581076 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Itgb1
|
Ensembl Gene |
ENSMUSG00000025809 |
Gene Name |
integrin beta 1 (fibronectin receptor beta) |
Synonyms |
Gm9863, Fnrb, CD29, beta1 integrin, 4633401G24Rik |
MMRRC Submission |
045569-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R7496 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
8 |
Chromosomal Location |
129412135-129459681 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 129446786 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Lysine to Glutamic Acid
at position 434
(K434E)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000087457
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000090006]
[ENSMUST00000124826]
|
AlphaFold |
P09055 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000090006
AA Change: K434E
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000087457 Gene: ENSMUSG00000025809 AA Change: K434E
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
20 |
N/A |
INTRINSIC |
PSI
|
26 |
76 |
3.01e-7 |
SMART |
INB
|
34 |
464 |
2e-298 |
SMART |
VWA
|
142 |
372 |
1.45e0 |
SMART |
low complexity region
|
568 |
581 |
N/A |
INTRINSIC |
Pfam:EGF_2
|
599 |
630 |
8.8e-8 |
PFAM |
Integrin_B_tail
|
640 |
728 |
4.58e-37 |
SMART |
transmembrane domain
|
729 |
751 |
N/A |
INTRINSIC |
Integrin_b_cyt
|
752 |
798 |
3.43e-27 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000124826
|
SMART Domains |
Protein: ENSMUSP00000120026 Gene: ENSMUSG00000025809
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
20 |
N/A |
INTRINSIC |
PDB:3VI4|D
|
21 |
51 |
2e-16 |
PDB |
Blast:PSI
|
26 |
51 |
1e-11 |
BLAST |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000149116
|
SMART Domains |
Protein: ENSMUSP00000119699 Gene: ENSMUSG00000025809
Domain | Start | End | E-Value | Type |
Pfam:Integrin_B_tail
|
1 |
39 |
1.9e-12 |
PFAM |
transmembrane domain
|
40 |
62 |
N/A |
INTRINSIC |
Integrin_b_cyt
|
63 |
109 |
8.77e-25 |
SMART |
|
Meta Mutation Damage Score |
0.0605 |
Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.2%
|
Validation Efficiency |
100% (50/50) |
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Integrins are heterodimeric proteins made up of alpha and beta subunits. At least 18 alpha and 8 beta subunits have been described in mammals. Integrin family members are membrane receptors involved in cell adhesion and recognition in a variety of processes including embryogenesis, hemostasis, tissue repair, immune response and metastatic diffusion of tumor cells. This gene encodes a beta subunit. Multiple alternatively spliced transcript variants which encode different protein isoforms have been found for this gene. [provided by RefSeq, Jul 2008] PHENOTYPE: Homozygous targeted null mutants die at or soon after implantation. Tissue-specific knockouts exhibit skin blisters, hair-loss, brain and heart defects, and impaired immune responses, wound healing, and hematopoietic stem cell migration, respectively. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 48 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adgrg7 |
T |
C |
16: 56,553,220 (GRCm39) |
I626V |
probably benign |
Het |
Adgrv1 |
A |
T |
13: 81,588,344 (GRCm39) |
V4414E |
possibly damaging |
Het |
Ago1 |
C |
T |
4: 126,355,545 (GRCm39) |
R88H |
probably benign |
Het |
Ankrd6 |
C |
T |
4: 32,810,299 (GRCm39) |
D461N |
probably damaging |
Het |
Bcl2l14 |
A |
G |
6: 134,404,417 (GRCm39) |
N202D |
probably benign |
Het |
Bnip2 |
A |
G |
9: 69,910,686 (GRCm39) |
I245V |
probably damaging |
Het |
Cdhr3 |
T |
C |
12: 33,110,264 (GRCm39) |
D340G |
probably damaging |
Het |
Dchs1 |
T |
C |
7: 105,411,066 (GRCm39) |
E1653G |
probably damaging |
Het |
Dhdds |
C |
A |
4: 133,698,565 (GRCm39) |
Q256H |
possibly damaging |
Het |
Dsc2 |
A |
T |
18: 20,168,451 (GRCm39) |
C669* |
probably null |
Het |
Dync2h1 |
T |
C |
9: 7,135,015 (GRCm39) |
|
probably null |
Het |
Dysf |
T |
C |
6: 84,044,460 (GRCm39) |
S276P |
probably benign |
Het |
Galc |
A |
T |
12: 98,225,497 (GRCm39) |
L31* |
probably null |
Het |
Gm527 |
C |
T |
12: 64,969,184 (GRCm39) |
R204C |
possibly damaging |
Het |
Hivep3 |
G |
A |
4: 119,989,599 (GRCm39) |
D2017N |
probably benign |
Het |
Inf2 |
C |
T |
12: 112,566,752 (GRCm39) |
R106C |
probably damaging |
Het |
Lamb1 |
A |
C |
12: 31,350,020 (GRCm39) |
N700T |
probably benign |
Het |
Macc1 |
T |
G |
12: 119,410,734 (GRCm39) |
F501V |
possibly damaging |
Het |
Man2a2 |
G |
A |
7: 80,002,745 (GRCm39) |
H1079Y |
probably damaging |
Het |
Nedd4l |
G |
A |
18: 65,213,089 (GRCm39) |
V82I |
possibly damaging |
Het |
Nr2f1 |
T |
C |
13: 78,343,361 (GRCm39) |
E301G |
probably damaging |
Het |
Or10ag59 |
A |
G |
2: 87,405,715 (GRCm39) |
R96G |
probably damaging |
Het |
Or2ag13 |
A |
G |
7: 106,313,435 (GRCm39) |
L151P |
probably benign |
Het |
Or4a73 |
T |
C |
2: 89,421,040 (GRCm39) |
I140V |
probably benign |
Het |
Pdgfrb |
G |
A |
18: 61,212,004 (GRCm39) |
V844I |
possibly damaging |
Het |
Pkd1l2 |
T |
C |
8: 117,787,333 (GRCm39) |
E570G |
possibly damaging |
Het |
R3hdm4 |
A |
T |
10: 79,752,708 (GRCm39) |
L4Q |
probably damaging |
Het |
Rb1cc1 |
A |
G |
1: 6,318,415 (GRCm39) |
K639R |
probably null |
Het |
Robo3 |
A |
T |
9: 37,339,121 (GRCm39) |
C257S |
probably damaging |
Het |
Rprd2 |
A |
T |
3: 95,673,087 (GRCm39) |
L772Q |
probably damaging |
Het |
Sall2 |
T |
C |
14: 52,553,018 (GRCm39) |
D59G |
possibly damaging |
Het |
Sall3 |
T |
C |
18: 81,016,579 (GRCm39) |
T450A |
probably benign |
Het |
Sdhd |
T |
C |
9: 50,508,385 (GRCm39) |
*160W |
probably null |
Het |
Sgca |
T |
C |
11: 94,862,070 (GRCm39) |
E194G |
possibly damaging |
Het |
Shtn1 |
G |
A |
19: 59,016,616 (GRCm39) |
R228C |
probably damaging |
Het |
Skor1 |
A |
T |
9: 63,054,132 (GRCm39) |
S22T |
probably benign |
Het |
Slc26a8 |
C |
A |
17: 28,863,824 (GRCm39) |
G645V |
probably benign |
Het |
Smtn |
T |
C |
11: 3,479,988 (GRCm39) |
E411G |
probably damaging |
Het |
Sox17 |
A |
G |
1: 4,562,550 (GRCm39) |
Y217H |
probably damaging |
Het |
Syk |
A |
G |
13: 52,766,452 (GRCm39) |
Q179R |
probably benign |
Het |
Tpp2 |
A |
G |
1: 44,022,677 (GRCm39) |
I959M |
probably benign |
Het |
Trim65 |
T |
A |
11: 116,017,142 (GRCm39) |
N440I |
probably damaging |
Het |
Ubr2 |
C |
T |
17: 47,301,917 (GRCm39) |
|
probably null |
Het |
Ush2a |
T |
C |
1: 188,083,284 (GRCm39) |
S276P |
possibly damaging |
Het |
Vmn1r61 |
A |
G |
7: 5,613,430 (GRCm39) |
S295P |
probably benign |
Het |
Wdhd1 |
T |
C |
14: 47,511,481 (GRCm39) |
Q77R |
probably benign |
Het |
Xylb |
T |
A |
9: 119,220,882 (GRCm39) |
*552R |
probably null |
Het |
Zfp932 |
C |
T |
5: 110,156,694 (GRCm39) |
P131S |
probably damaging |
Het |
|
Other mutations in Itgb1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00232:Itgb1
|
APN |
8 |
129,440,399 (GRCm39) |
splice site |
probably benign |
|
IGL01407:Itgb1
|
APN |
8 |
129,449,315 (GRCm39) |
missense |
probably benign |
0.08 |
IGL03025:Itgb1
|
APN |
8 |
129,449,065 (GRCm39) |
missense |
possibly damaging |
0.96 |
Drystacked
|
UTSW |
8 |
129,458,535 (GRCm39) |
missense |
possibly damaging |
0.79 |
Jumble
|
UTSW |
8 |
129,440,597 (GRCm39) |
missense |
probably damaging |
1.00 |
PIT4377001:Itgb1
|
UTSW |
8 |
129,436,864 (GRCm39) |
missense |
probably damaging |
1.00 |
R0136:Itgb1
|
UTSW |
8 |
129,449,335 (GRCm39) |
missense |
possibly damaging |
0.96 |
R0244:Itgb1
|
UTSW |
8 |
129,444,166 (GRCm39) |
splice site |
probably benign |
|
R0483:Itgb1
|
UTSW |
8 |
129,452,648 (GRCm39) |
missense |
possibly damaging |
0.79 |
R0606:Itgb1
|
UTSW |
8 |
129,448,853 (GRCm39) |
unclassified |
probably benign |
|
R0657:Itgb1
|
UTSW |
8 |
129,449,335 (GRCm39) |
missense |
possibly damaging |
0.96 |
R0865:Itgb1
|
UTSW |
8 |
129,436,732 (GRCm39) |
critical splice acceptor site |
probably null |
|
R1052:Itgb1
|
UTSW |
8 |
129,439,786 (GRCm39) |
missense |
probably damaging |
1.00 |
R1429:Itgb1
|
UTSW |
8 |
129,444,157 (GRCm39) |
critical splice donor site |
probably null |
|
R1589:Itgb1
|
UTSW |
8 |
129,431,940 (GRCm39) |
missense |
possibly damaging |
0.95 |
R1589:Itgb1
|
UTSW |
8 |
129,431,939 (GRCm39) |
missense |
probably damaging |
0.99 |
R1614:Itgb1
|
UTSW |
8 |
129,446,546 (GRCm39) |
missense |
probably damaging |
1.00 |
R1672:Itgb1
|
UTSW |
8 |
129,458,526 (GRCm39) |
missense |
probably damaging |
1.00 |
R1723:Itgb1
|
UTSW |
8 |
129,452,519 (GRCm39) |
missense |
probably damaging |
0.98 |
R1865:Itgb1
|
UTSW |
8 |
129,446,938 (GRCm39) |
missense |
probably benign |
0.01 |
R3786:Itgb1
|
UTSW |
8 |
129,439,839 (GRCm39) |
missense |
probably damaging |
1.00 |
R4223:Itgb1
|
UTSW |
8 |
129,440,624 (GRCm39) |
missense |
probably damaging |
1.00 |
R4756:Itgb1
|
UTSW |
8 |
129,443,703 (GRCm39) |
missense |
probably damaging |
0.98 |
R4826:Itgb1
|
UTSW |
8 |
129,446,789 (GRCm39) |
missense |
probably damaging |
1.00 |
R4880:Itgb1
|
UTSW |
8 |
129,442,631 (GRCm39) |
missense |
probably damaging |
1.00 |
R5202:Itgb1
|
UTSW |
8 |
129,446,491 (GRCm39) |
missense |
probably damaging |
0.99 |
R5682:Itgb1
|
UTSW |
8 |
129,453,549 (GRCm39) |
splice site |
probably null |
|
R5935:Itgb1
|
UTSW |
8 |
129,439,718 (GRCm39) |
nonsense |
probably null |
|
R6156:Itgb1
|
UTSW |
8 |
129,458,535 (GRCm39) |
missense |
possibly damaging |
0.79 |
R6160:Itgb1
|
UTSW |
8 |
129,446,764 (GRCm39) |
missense |
possibly damaging |
0.95 |
R6248:Itgb1
|
UTSW |
8 |
129,448,902 (GRCm39) |
missense |
possibly damaging |
0.80 |
R6812:Itgb1
|
UTSW |
8 |
129,431,891 (GRCm39) |
splice site |
probably null |
|
R6869:Itgb1
|
UTSW |
8 |
129,446,516 (GRCm39) |
missense |
probably benign |
0.01 |
R7249:Itgb1
|
UTSW |
8 |
129,446,885 (GRCm39) |
missense |
probably benign |
0.28 |
R7679:Itgb1
|
UTSW |
8 |
129,446,929 (GRCm39) |
missense |
probably damaging |
0.99 |
R7787:Itgb1
|
UTSW |
8 |
129,453,499 (GRCm39) |
missense |
probably benign |
0.32 |
R7800:Itgb1
|
UTSW |
8 |
129,439,718 (GRCm39) |
missense |
possibly damaging |
0.89 |
R8015:Itgb1
|
UTSW |
8 |
129,448,882 (GRCm39) |
missense |
possibly damaging |
0.79 |
R8687:Itgb1
|
UTSW |
8 |
129,442,697 (GRCm39) |
missense |
probably damaging |
1.00 |
R8709:Itgb1
|
UTSW |
8 |
129,439,887 (GRCm39) |
intron |
probably benign |
|
R8979:Itgb1
|
UTSW |
8 |
129,448,951 (GRCm39) |
missense |
probably benign |
0.05 |
R9243:Itgb1
|
UTSW |
8 |
129,433,587 (GRCm39) |
missense |
probably benign |
0.36 |
R9389:Itgb1
|
UTSW |
8 |
129,433,637 (GRCm39) |
missense |
probably benign |
|
R9398:Itgb1
|
UTSW |
8 |
129,452,605 (GRCm39) |
missense |
probably damaging |
1.00 |
Z1088:Itgb1
|
UTSW |
8 |
129,439,850 (GRCm39) |
missense |
probably damaging |
0.99 |
|
Predicted Primers |
PCR Primer
(F):5'- AAATCCTATTGCAAGAATGGGGTG -3'
(R):5'- TGCAGGCTCCACACTCAAATG -3'
Sequencing Primer
(F):5'- CGAAAGTGTTCCAACATTTCTATTGG -3'
(R):5'- AAATGTCCCATTTCCCTCATGG -3'
|
Posted On |
2019-10-17 |